Clinical interpretation of copy number variants in the human genome

被引：95
|
作者：
Nowakowska, Beata [1 ]
机构：
[1] Inst Mother & Child Hlth, Dept Med Genet, Kasprzaka 17a, PL-01211 Warsaw, Poland
来源：
JOURNAL OF APPLIED GENETICS | 2017年 / 58卷 / 04期
关键词：
Copy number variants; CNV interpretation; VOUS; Susceptibility loci; Genotype-phenotype correlations; STRUCTURAL VARIATION; ARRAY-CGH; NEURODEVELOPMENTAL DISORDERS; CHROMOSOME-ABNORMALITIES; MENTAL-RETARDATION; PRENATAL-DIAGNOSIS; DELETION SYNDROME; INTERSTITIAL DELETION; GENETIC-DISEASE; SCALE;
D O I：
10.1007/s13353-017-0407-4
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
Molecular methods, by which copy number variants (CNVs) detection is available, have been gradually introduced into routine diagnostics over the last 15 years. Despite this, some CNVs continue to be a huge challenge when it comes to clinical interpretation. CNVs are an important source of normal and pathogenic variants, but, in many cases, their impact on human health depends on factors that are not yet known. Therefore, perception of their clinical consequences can change over time, as our knowledge grows. This review summarises guidelines that facilitate correct classification of identified changes and discusses difficulties with the interpretation of rare, small CNVs.
引用
收藏
页码：449 / 457
页数：9
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